ESPE Abstracts

Objective: Craniopharyngiomas, diagnosed and treated during childhood, pose significant challenges due to their location in the sella turcica, adjacent to the pituitary and hypothalamus. Patients often experience endocrine deficiencies which may affect their body composition and metabolic health. We aim ed to explore the body composition components and their interaction with metabolic syndrome components in pediatric patients with craniopharyngioma following n...

Introduction: Endocrine complications observed in patients with thalassemia major (TM) are mainly secondary to martial overload. Hypoparathyroidism (HPT) is a late and rare complication, typical of the 2nd decade of life in transfusion-dependent thalassemia patients (TDT). It is usually associated with other iron overload conditions (diabetes, hypogonadism, heart failure, etc.). The incidence of PTH varies from 1.2% to 20% depending on the center. Men are more...

Background: Fertility Preservation (FP) in children and adolescents poses unique challenges as efficacy is unproven.Objective and hypotheses: To describe characteristics and evidence for potential fertility in ovarian and testicular tissue cryopreservation specimens (OTCP and TTCP respectively) taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy.Method: Retrospective review of gonadal biopsies a...

We recently showed that Xq26.3 microduplications are associated with early childhood-onset gigantism, a condition we named X-linked acrogigantism (X-LAG). Patients with X-LAG present with mixed GH/PRL secreting pituitary macroadenomas and/or hyperplasia. The original smallest region of overlap for the microduplications included 4 coding genes, of which only one, an orphan G protein-coupled receptor named GPR101, was highly expressed in tumors. A single patient with GP...

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

Background: “SHORT syndrome” is a rare condition and mnemonic for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. The features most consistently observed in SHORT syndrome are mild intrauterine growth restriction; mild to moderate short stature; partial lipodystrophy; and a characteristic facial gestalt (small chin, triangular shaped face, prominent forehand, abnormal positioning large ears and thin wrinkled...

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologic...

Background: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by genetic mutation of NF1 gene in chromosome 17q11.2, with a worldwide incidence of approximately 1 in 3000 people. It is caused by de novo mutation, in about 50%. This is a multisystemic disease, presenting with café-au-lait spots, axillary freckling, skeletal dysplasia and neural crest tumors (benign neurofibromas usually). Autoimmune disease associated with NF1 c...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...